Source code for msprime.intervals

# Copyright (C) 2020-2021 University of Oxford
# This file is part of msprime.
# msprime is free software: you can redistribute it and/or modify
# it under the terms of the GNU General Public License as published by
# the Free Software Foundation, either version 3 of the License, or
# (at your option) any later version.
# msprime is distributed in the hope that it will be useful,
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Utilities for working with intervals and interval maps.
from __future__ import annotations

import itertools
import numbers
import warnings

import numpy as np

from msprime import core

[docs]class RateMap( """ A class mapping a non-negative rate value to a set of non-overlapping intervals along the genome. Intervals for which the rate is unknown (i.e., missing data) are encoded by NaN values in the ``rate`` array. :param list position: A list of :math:`n+1` positions, starting at 0, and ending in the sequence length over which the RateMap will apply. :param list rate: A list of :math:`n` positive rates that apply between each position. Intervals with missing data are encoded by NaN values. """ # The args are marked keyword only to give us some flexibility in how we # create class this in the future. def __init__( self, *, position, rate, ): # Making the arrays read-only guarantees rate and cumulative mass stay in sync # We prevent the arrays themselves being overwritten by making self.position, # etc properties. # TODO we always coerce the position type to float here, but we may not # want to do this. int32 is a perfectly good choice a lot of the time. self._position = np.array(position, dtype=float) self._position.flags.writeable = False self._rate = np.array(rate, dtype=float) self._rate.flags.writeable = False size = len(self._position) if size < 2: raise ValueError("Must have at least two positions") if len(self._rate) != size - 1: raise ValueError( "Rate array must have one less entry than the position array" ) if self._position[0] != 0: raise ValueError("First position must be zero") span = self.span if np.any(span <= 0): bad_pos = np.where(span <= 0)[0] + 1 raise ValueError( f"Position values not strictly increasing at indexes {bad_pos}" ) if np.any(self._rate < 0): bad_rates = np.where(self._rate < 0)[0] raise ValueError(f"Rate values negative at indexes {bad_rates}") self._missing = np.isnan(self.rate) self._num_missing_intervals = np.sum(self._missing) if self._num_missing_intervals == len(self.rate): raise ValueError("All intervals are missing data") # We don't expose the cumulative mass array as a part of the array # API is it's not quite as obvious how it lines up for each interval. # It's really the sum of the mass up to but not including the current # interval, which is a bit confusing. Probably best to just leave # it as a function, so that people can sample at regular positions # along the genome anyway, emphasising that it's a continuous function, # not a step function like the other interval attributes. self._cumulative_mass = np.insert(np.nancumsum(self.mass), 0, 0) assert self._cumulative_mass[0] == 0 self._cumulative_mass.flags.writeable = False @property def left(self): """ The left position of each interval (inclusive). """ return self._position[:-1] @property def right(self): """ The right position of each interval (exclusive). """ return self._position[1:] @property def mid(self): """ Returns the midpoint of each interval. """ mid = self.left + self.span / 2 mid.flags.writeable = False return mid @property def span(self): """ Returns the span (i.e., ``right - left``) of each of the intervals. """ span = self.right - self.left span.flags.writeable = False return span @property def position(self): """ The breakpoint positions between intervals. This is equal to the :attr:`~.RateMap.left` array with the :attr:`sequence_length` appended. """ return self._position @property def rate(self): """ The rate associated with each interval. Missing data is encoded by NaN values. """ return self._rate @property def mass(self): r""" The "mass" of each interval, defined as the :attr:`~.RateMap.rate` :math:`\times` :attr:`~.RateMap.span`. This is NaN for intervals containing missing data. """ return self._rate * self.span @property def missing(self): """ A boolean array encoding whether each interval contains missing data. Equivalent to ``np.isnan(rate_map.rate)`` """ return self._missing @property def non_missing(self): """ A boolean array encoding whether each interval contains non-missing data. Equivalent to ``np.logical_not(np.isnan(rate_map.rate))`` """ return ~self._missing # # Interval counts # @property def num_intervals(self) -> int: """ The total number of intervals in this map. Equal to :attr:`~.RateMap.num_missing_intervals` + :attr:`~.RateMap.num_non_missing_intervals`. """ return len(self._rate) @property def num_missing_intervals(self) -> int: """ Returns the number of missing intervals, i.e., those in which the :attr:`~.RateMap.rate` value is a NaN. """ return self._num_missing_intervals @property def num_non_missing_intervals(self) -> int: """ The number of non missing intervals, i.e., those in which the :attr:`~.RateMap.rate` value is not a NaN. """ return self.num_intervals - self.num_missing_intervals @property def sequence_length(self): """ The sequence length covered by this map """ return self.position[-1] @property def total_mass(self): """ The cumulative total mass over the entire map. """ return self._cumulative_mass[-1] @property def mean_rate(self): """ The mean rate over this map weighted by the span covered by each rate. Unknown intervals are excluded. """ total_span = np.sum(self.span[self.non_missing]) return self.total_mass / total_span
[docs] def get_rate(self, x): """ Return the rate at the specified list of positions. .. note:: This function will return a NaN value for any positions that contain missing data. :param numpy.ndarray x: The positions for which to return values. :return: An array of rates, the same length as ``x``. :rtype: numpy.ndarray """ loc = np.searchsorted(self.position, x, side="right") - 1 if np.any(loc < 0) or np.any(loc >= len(self.rate)): raise ValueError("position out of bounds") return self.rate[loc]
[docs] def get_cumulative_mass(self, x): """ Return the cumulative mass of the map up to (but not including) a given point for a list of positions along the map. This is equal to the integral of the rate from 0 to the point. :param numpy.ndarray x: The positions for which to return values. :return: An array of cumulative mass values, the same length as ``x`` :rtype: numpy.ndarray """ x = np.array(x) if np.any(x < 0) or np.any(x > self.sequence_length): raise ValueError(f"Cannot have positions < 0 or > {self.sequence_length}") return np.interp(x, self.position, self._cumulative_mass)
[docs] def find_index(self, x: float) -> int: """ Returns the index of the interval that the specified position falls within, such that ``rate_map.left[index] <= x < self.rate_map.right[index]``. :param float x: The position to search. :return: The index of the interval containing this point. :rtype: int :raises: KeyError if the position is not contained in any of the intervals. """ if x < 0 or x >= self.sequence_length: raise KeyError(f"Position {x} out of bounds") index = np.searchsorted(self.position, x, side="left") if x < self.position[index]: index -= 1 assert self.left[index] <= x < self.right[index] return index
[docs] def missing_intervals(self): """ Returns the left and right coordinates of the intervals containing missing data in this map as a 2D numpy array with shape (:attr:`~.RateMap.num_missing_intervals`, 2). Each row of this returned array is therefore a ``left``, ``right`` tuple corresponding to the coordinates of the missing intervals. :return: A numpy array of the coordinates of intervals containing missing data. :rtype: numpy.ndarray """ out = np.empty((self.num_missing_intervals, 2)) out[:, 0] = self.left[self.missing] out[:, 1] = self.right[self.missing] return out
def asdict(self): return {"position": self.position, "rate": self.rate} # # Dunder methods. We implement the Mapping protocol via __iter__, __len__ # and __getitem__. We have some extra semantics for __getitem__, providing # slice notation. # def __iter__(self): # The clinching argument for using mid here is that if we used # left instead we would have # RateMap([0, 1], [0.1]) == RateMap([0, 100], [0.1]) # by the inherited definition of equality since the dictionary items # would be equal. # Similarly, we only return the midpoints of known intervals # because NaN values are not equal, and we would need to do # something to work around this. It seems reasonable that # this high-level operation returns the *known* values only # anyway. yield from self.mid[self.non_missing] def __len__(self): return np.sum(self.non_missing) def __getitem__(self, key): if isinstance(key, slice): if key.step is not None: raise TypeError("Only interval slicing is supported") return self.slice(key.start, key.stop) if isinstance(key, numbers.Number): index = self.find_index(key) if np.isnan(self.rate[index]): # To be consistent with the __iter__ definition above we # don't consider these missing positions to be "in" the map. raise KeyError(f"Position {key} is within a missing interval") return self.rate[index] # TODO we could implement numpy array indexing here and call # to get_rate. Note we'd need to take care that we return a keyerror # if the returned array contains any nans though. raise KeyError("Key {key} not in map") def _display_table(self): def format_row(left, right, mid, span, rate): return [ f"{left:.10g}", f"{right:.10g}", f"{mid:.10g}", f"{span:.10g}", f"{rate:.2g}", ] def format_slice(start, end): return list( itertools.starmap( format_row, zip( self.left[start:end], self.right[start:end], self.mid[start:end], self.span[start:end], self.rate[start:end], ), ) ) if self.num_intervals < 40: data = format_slice(0, None) else: data = format_slice(0, 10) data.append(["⋯"] * 5) data += format_slice(-10, None) return ["left", "right", "mid", "span", "rate"], data def __str__(self): titles, data = self._display_table() data = [[[item] for item in row] for row in data] table = core.text_table( caption="", column_titles=[[title] for title in titles], column_alignments="<<>>>", data=data, ) return table def _repr_html_(self): col_titles, data = self._display_table() return core.html_table("", col_titles, data) def __repr__(self): return f"RateMap(position={repr(self.position)}, rate={repr(self.rate)})" # # Methods for building rate maps. #
[docs] def copy(self) -> RateMap: """ Returns a deep copy of this RateMap. """ # We take read-only copies of the arrays in the constructor anyway, so # no need for copying. return RateMap(position=self.position, rate=self.rate)
[docs] def slice(self, left=None, right=None, *, trim=False) -> RateMap: # noqa: A003 """ Returns a subset of this rate map in the specified interval. :param float left: The left coordinate (inclusive) of the region to keep. If ``None``, defaults to 0. :param float right: The right coordinate (exclusive) of the region to keep. If ``None``, defaults to the sequence length. :param bool trim: If True, remove the flanking regions such that the sequence length of the new rate map is ``right`` - ``left``. If ``False`` (default), do not change the coordinate system and mark the flanking regions as "unknown". :return: A new RateMap instance :rtype: RateMap """ left = 0 if left is None else left right = self.sequence_length if right is None else right if not (0 <= left < right <= self.sequence_length): raise KeyError(f"Invalid slice: left={left}, right={right}") i = self.find_index(left) j = i + np.searchsorted(self.position[i:], right, side="right") if right > self.position[j - 1]: j += 1 position = self.position[i:j].copy() rate = self.rate[i : j - 1].copy() position[0] = left position[-1] = right if trim: # Return trimmed map with changed coords return RateMap(position=position - left, rate=rate) # Need to check regions before & after sliced region are filled out: if left != 0: if np.isnan(rate[0]): position[0] = 0 # Extend else: rate = np.insert(rate, 0, np.nan) # Prepend position = np.insert(position, 0, 0) if right != self.position[-1]: if np.isnan(rate[-1]): position[-1] = self.sequence_length # Extend else: rate = np.append(rate, np.nan) # Append position = np.append(position, self.position[-1]) return RateMap(position=position, rate=rate)
[docs] @staticmethod def uniform(sequence_length, rate) -> RateMap: """ Create a uniform rate map """ return RateMap(position=[0, sequence_length], rate=[rate])
[docs] @staticmethod def read_hapmap( fileobj, sequence_length=None, *, has_header=True, position_col=None, rate_col=None, map_col=None, ): # Black barfs with an INTERNAL_ERROR trying to reformat this docstring, # so we explicitly disable reformatting here. # fmt: off """ Parses the specified file in HapMap format and returns a :class:`.RateMap`. HapMap files must white-space-delimited, and by default are assumed to contain a single header line (which is ignored). Each subsequent line then contains a physical position (in base pairs) and either a genetic map position (in centiMorgans) or a recombination rate (in centiMorgans per megabase). The value in the rate column in a given line gives the constant rate between the physical position in that line (inclusive) and the physical position on the next line (exclusive). By default, the second column of the file is taken as the physical position and the fourth column is taken as the genetic position, as seen in the following sample of the format:: Chromosome Position(bp) Rate(cM/Mb) Map(cM) chr10 48232 0.1614 0.002664 chr10 48486 0.1589 0.002705 chr10 50009 0.159 0.002947 chr10 52147 0.1574 0.003287 ... chr10 133762002 3.358 181.129345 chr10 133766368 0.000 181.144008 In the example above, the first row has a nonzero genetic map position (last column, cM), implying a nonzero recombination rate before that position, that is assumed to extend to the start of the chromosome (at position 0 bp). However, if the first line has a nonzero bp position (second column) and a zero genetic map position (last column, cM), then the recombination rate before that position is *unknown*, producing :ref:`missing data <sec_rate_maps_missing>`. .. note:: The rows are all assumed to come from the same contig, and the first column is currently ignored. Therefore if you have a single file containing several contigs or chromosomes, you must must split it up into multiple files, and pass each one separately to this function. :param str fileobj: Filename or file to read. This is passed directly to :func:`numpy.loadtxt`, so if the filename extension is .gz or .bz2, the file is decompressed first :param float sequence_length: The total length of the map. If ``None``, then assume it is the last physical position listed in the file. Otherwise it must be greater then or equal to the last physical position in the file, and the region between the last physical position and the sequence_length is padded with a rate of zero. :param bool has_header: If True (default), assume the file has a header row and ignore the first line of the file. :param int position_col: The zero-based index of the column in the file specifying the physical position in base pairs. If ``None`` (default) assume an index of 1 (i.e. the second column). :param int rate_col: The zero-based index of the column in the file specifying the rate in cM/Mb. If ``None`` (default) do not use the rate column, but calculate rates using the genetic map positions, as specified in ``map_col``. If the rate column is used, the interval from 0 to first physical position in the file is marked as unknown, and the last value in the rate column must be zero. :param int map_col: The zero-based index of the column in the file specifying the genetic map position in centiMorgans. If ``None`` (default), assume an index of 3 (i.e. the fourth column). If the first genetic position is 0 the interval from position 0 to the first physical position in the file is marked as unknown. Otherwise, act as if an additional row, specifying physical position 0 and genetic position 0, exists at the start of the file. :return: A RateMap object. :rtype: RateMap """ # fmt: on column_defs = {} # column definitions passed to np.loadtxt if rate_col is None and map_col is None: # Default to map_col map_col = 3 elif rate_col is not None and map_col is not None: raise ValueError("Cannot specify both rate_col and map_col") if map_col is not None: column_defs[map_col] = ("map", float) else: column_defs[rate_col] = ("rate", float) position_col = 1 if position_col is None else position_col if position_col in column_defs: raise ValueError( "Cannot specify the same columns for position_col and " "rate_col or map_col" ) column_defs[position_col] = ("pos", int) column_names = [c[0] for c in column_defs.values()] column_data = np.loadtxt( fileobj, skiprows=1 if has_header else 0, dtype=list(column_defs.values()), usecols=list(column_defs.keys()), unpack=True, ) data = dict(zip(column_names, column_data)) if "map" not in data: assert "rate" in data if data["rate"][-1] != 0: raise ValueError("The last entry in the 'rate' column must be zero") pos_Mb = data["pos"] / 1e6 map_pos = np.cumsum(data["rate"][:-1] * np.diff(pos_Mb)) data["map"] = np.insert(map_pos, 0, 0) / 100 else: data["map"] /= 100 # Convert centiMorgans to Morgans if len(data["map"]) == 0: raise ValueError("Empty hapmap file") # TO DO: read in chrom name from col 0 and poss set as .name # attribute on the RateMap physical_positions = data["pos"] genetic_positions = data["map"] start = physical_positions[0] end = physical_positions[-1] if genetic_positions[0] > 0 and start == 0: raise ValueError( "The map distance at the start of the chromosome must be zero" ) if start > 0: physical_positions = np.insert(physical_positions, 0, 0) if genetic_positions[0] > 0: # Exception for a map that starts > 0cM: include the start rate # in the mean start = 0 genetic_positions = np.insert(genetic_positions, 0, 0) if sequence_length is not None: if sequence_length < end: raise ValueError( "The sequence_length cannot be less than the last physical position " f" ({physical_positions[-1]})" ) if sequence_length > end: physical_positions = np.append(physical_positions, sequence_length) genetic_positions = np.append(genetic_positions, genetic_positions[-1]) assert genetic_positions[0] == 0 rate = np.diff(genetic_positions) / np.diff(physical_positions) if start != 0: rate[0] = np.nan if end != physical_positions[-1]: rate[-1] = np.nan return RateMap(position=physical_positions, rate=rate)
[docs]class RecombinationMap: """ A RecombinationMap represents the changing rates of recombination along a chromosome. This is defined via two lists of numbers: ``positions`` and ``rates``, which must be of the same length. Given an index j in these lists, the rate of recombination per base per generation is ``rates[j]`` over the interval ``positions[j]`` to ``positions[j + 1]``. Consequently, the first position must be zero, and by convention the last rate value is also required to be zero (although it is not used). .. important:: This class is deprecated (but supported indefinitely); please use the :class:`.RateMap` class in new code. In particular, note that when specifying ``rates`` in the the :class:`.RateMap` class we now require an array of length :math:`n - 1` (this class requires an array of length :math:`n` in which the last entry is zero). :param list positions: The positions (in bases) denoting the distinct intervals where recombination rates change. These can be floating point values. :param list rates: The list of rates corresponding to the supplied ``positions``. Recombination rates are specified per base, per generation. :param int num_loci: **This parameter is no longer supported.** Must be either None (meaning a continuous genome of the finest possible resolution) or be equal to ``positions[-1]`` (meaning a discrete genome). Any other value will result in an error. Please see the :ref:`sec_legacy_0x_genome_discretisation` section for more information. """ def __init__(self, positions, rates, num_loci=None, map_start=0): # Used as an internal flag for the 0.x simulate() function. This allows # us to emulate the discrete-sites behaviour of 0.x code. self._is_discrete = num_loci == positions[-1] if num_loci is not None and num_loci != positions[-1]: raise ValueError( "The RecombinationMap interface is deprecated and only " "partially supported. If you wish to simulate a number of " "discrete loci, you must set num_loci == the sequence length. " "If you wish to simulate recombination process on as fine " "a map as possible, please omit the num_loci parameter (or set " "to None). Otherwise, num_loci is no longer supported and " "the behaviour of msprime 0.x cannot be emulated. Please " "consider upgrading your code to the version 1.x APIs." ) = RateMap(position=positions, rate=rates[:-1])
[docs] @classmethod def uniform_map(cls, length, rate, num_loci=None): """ Returns a :class:`.RecombinationMap` instance in which the recombination rate is constant over a chromosome of the specified length. The legacy ``num_loci`` option is no longer supported and should not be used. :param float length: The length of the chromosome. :param float rate: The rate of recombination per unit of sequence length along this chromosome. :param int num_loci: This parameter is no longer supported. """ return cls([0, length], [rate, 0], num_loci=num_loci)
[docs] @classmethod def read_hapmap(cls, filename): """ Parses the specified file in HapMap format. .. warning:: This method is deprecated, use the :meth:`.RateMap.read_hapmap` method instead. :param str filename: The name of the file to be parsed. This may be in plain text or gzipped plain text. :return: A RecombinationMap object. """ warnings.warn( "RecombinationMap.read_hapmap() is deprecated. " "Use RateMap.read_hapmap() instead.", FutureWarning, ) rate_map = RateMap.read_hapmap(filename, position_col=1, rate_col=2) # Mark anything missing as 0 for backwards compatibility. This will # ensure that simulate() never trims parts of the tree sequence. rate = rate_map.rate.copy() rate[rate_map.missing] = 0 return cls(rate_map.position, np.append(rate, 0))
@property def mean_recombination_rate(self): """ Return the weighted mean recombination rate across all windows of the entire recombination map. """ return
[docs] def get_total_recombination_rate(self): """ Returns the effective recombination rate for this genetic map. This is the weighted mean of the rates across all intervals. """ return
def physical_to_genetic(self, x): return def genetic_to_physical(self, genetic_x): if == 0: # If we have a zero recombination rate throughout then everything # except L maps to 0. return self.get_sequence_length() if genetic_x > 0 else 0 if genetic_x == 0: return[0] # TODO refactor this to this to use get_cumulative_mass() function / add the # corresponding high-level function to the rate map. index = np.searchsorted(, genetic_x) - 1 y = ([index] + (genetic_x -[index]) /[index] ) return y def physical_to_discrete_genetic(self, physical_x): raise ValueError("Discrete genetic space is no longer supported") def get_per_locus_recombination_rate(self): raise ValueError("Genetic loci are no longer supported") def get_num_loci(self): raise ValueError("num_loci is no longer supported") def get_size(self): return len( def get_positions(self): return list( def get_rates(self): return list( + [0] def get_sequence_length(self): return def get_length(self): # Deprecated: use get_sequence_length() instead return self.get_sequence_length() def asdict(self): return